Bourneville syndrome (bourneville-pringle syndrome; tuberous sclerosis; epiloia)    166

General: Irregular dominant inheritance; more frequent in females; most 828i81i patients die before age 24 years.

Ocular: Vitreous often cloudy; lens opacities; retinal mushroom-like tumor of grayish-white color; yellowish-white plaques with small hemorrhages and cystic changes in retina; papilledema; disk drusen; cerebral astrocytoma; 40% to 50% of patients have normal intelligence.

Clinical: Grand mal, petit mal, or jacksonian seizures (manifest first 2 years of life); mental changes from feeblemindedness to imbecility and idiocy; skin changes arranged usually about nose and cheeks (adenoma sebaceum); congenital tumors of kidney (hypernephroma or tubular adenoma) and heart (rhabdomyoma); cerebral astrocytoma.

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Ettl A, et al. Retinal phakomata associated with cerebral astrocytoma. An incomplete form of Bourneville-Pringle disease? Ophthalmologica 1993; 206:209-213.

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Margo CE, et al. Giant cell astrocytoma of the retina in tuberous sclerosis. Retina 1994; 13:155-l59.

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